Variant report

Variant	rs12312436
Chromosome Location	chr12:4418675-4418676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4418659..4420968-chr12:4425809..4428758,2	K562	blood:
2	chr12:4414860..4423327-chr12:4428041..4432333,17	MCF-7	breast:
3	chr12:4416036..4419035-chr12:4433852..4435879,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078237	Chromatin interaction
ENSG00000213970	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17183640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4399600-4420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:4399800-4419400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:4400000-4418800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:4403200-4419000	Strong transcription	Primary T cells from cord blood	blood
5	chr12:4403200-4419200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:4403600-4419200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:4403800-4420800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:4404200-4419200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:4404400-4419000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:4404400-4421200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:4404600-4420200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:4404800-4419000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:4413200-4429200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:4413200-4429800	Weak transcription	Spleen	Spleen
15	chr12:4413800-4427000	Weak transcription	HSMMtube	muscle
16	chr12:4414400-4419800	Weak transcription	K562	blood
17	chr12:4414800-4429400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:4415000-4429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:4415200-4429600	Weak transcription	Aorta	Aorta
20	chr12:4416200-4429400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:4416400-4429400	Weak transcription	Primary B cells from cord blood	blood
22	chr12:4416400-4429400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:4416800-4419400	Enhancers	Placenta	Placenta
24	chr12:4417000-4429600	Weak transcription	Esophagus	oesophagus
25	chr12:4417400-4420800	Weak transcription	GM12878-XiMat	blood
26	chr12:4417400-4423600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:4417400-4429400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:4417400-4429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:4417400-4429600	Weak transcription	Pancreas	Pancrea
30	chr12:4417400-4429600	Weak transcription	HSMM	muscle
31	chr12:4417600-4420600	Strong transcription	Fetal Brain Female	brain
32	chr12:4417600-4422000	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:4417600-4423600	Strong transcription	Fetal Stomach	stomach
34	chr12:4417600-4425200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:4417600-4425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:4417600-4429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:4417600-4429400	Weak transcription	Adipose Nuclei	Adipose
38	chr12:4417600-4429400	Weak transcription	Brain Angular Gyrus	brain
39	chr12:4417600-4429400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:4417600-4429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:4417800-4420200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:4417800-4420400	Weak transcription	Left Ventricle	heart
43	chr12:4417800-4423600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:4417800-4427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:4417800-4429400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:4417800-4429400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:4417800-4429600	Weak transcription	Fetal Thymus	thymus
48	chr12:4417800-4429600	Weak transcription	Small Intestine	intestine
49	chr12:4418000-4418800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:4418000-4418800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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